Search results for "hernia"

The MalaCard for "hernia" has been retired.
Searching MalaCards for entries containing "hernia"

909 hits were found for 'hernia'

# Family MCID Name MIFTS Score
1
c CNG015 Congenital Diaphragmatic Hernia 58 6.600
2
HTS001 Hiatus Hernia 45 5.063
3
P DPH016 Diaphragmatic Hernia 3 40 4.795
4
DNN002 Donnai-Barrow Syndrome 40 4.467
5
MCR062 Microcephaly, Hiatal Hernia and Nephrotic Syndrome 26 3.394
6
FRY002 Fryns Syndrome 43 3.027
7
ACR038 Acromegaloid Features, Overgrowth, Cleft Palate and Hernia 6 2.902
8
MCR090 Microspherophakia with Hernia 4 2.902
9
DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 3 2.902
10
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 3 2.890
11
ABD010 Abdominal Wall Defect 39 2.538
12
P SHR029 Short Syndrome 56 2.456
13
LMB010 Lambert Syndrome 38 2.389
14
GRS006 Gershoni-Baruch Syndrome 6 2.365
15
DPH011 Diaphragmatic Hernia Upper Limb Defects 4 2.365
16
ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 2 2.365
17
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 1 2.365
18
c HRN009 Hernia, Congenital Diaphragmatic 1 7 2.349
19
c HRN010 Hernia, Congenital Diaphragmatic 2 7 2.349
20
HRN002 Hernia of Ovary and Fallopian Tube 6 2.349
21
c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 5 2.349
22
MRF012 Marfanoid Habitus - Inguinal Hernia - Advanced Bone Age 4 2.349
23
SPG003 Spigelian Hernia-Cryptorchidism Syndrome 2 2.349
24
c PRS049 Persistent Mullerian Duct Syndrome 44 1.732
25
PGD001 Pagod Syndrome 24 1.697
26
GST056 Gastrocutaneous Syndrome 16 1.697
27
DSP001 Displacement of Cardia Through Esophageal Hiatus 7 1.697
28
SHP002 Shprintzen-Goldberg Syndrome 30 1.681
29
APL011 Aplasia Cutis Myopia 16 1.661
30
MGR005 Megarbane Syndrome 4 1.661
31
SLB001 Saal Bulas Syndrome 4 1.661
32
P ESP024 Esophagitis 63 0.277
33
c INT070 Intestinal Obstruction 62 0.179
34
HYD005 Hydrocele 50 0.169
35
P HYP075 Hypertension 85 0.126
36
c PLM037 Pulmonary Hypertension 73 0.117
37
MCK002 Meckel's Diverticulum 42 0.114
38
PPT001 Peptic Esophagitis 33 0.109
39
CRY002 Cryptorchidism 63 0.106
40
GST034 Gastroesophageal Reflux Disease 68 0.103
41
P OMP004 Omphalocele 52 0.103
42
ESP020 Esophageal Atresia 57 0.100
43
DDN006 Duodenitis 55 0.100
44
APP008 Appendicitis 55 0.097
45
AND002 Androgen Insensitivity Syndrome 80 0.094
46
ENT001 Enterocele 28 0.091
47
FCL009 Focal Dermal Hypoplasia 58 0.088
48
P OBS005 Obesity 89 0.084
49
GST009 Gastroschisis 66 0.084
50
c HPT021 Hepatitis 63 0.084
51
CRD001 Cardiac Tamponade 54 0.084
52
ANR040 Aneurysm 45 0.084
53
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.084
54
c TYP003 Type I Ehlers-Danlos Syndrome 40 0.084
55
GST064 Gastric Outlet Obstruction 39 0.084
56
ART016 Aortic Aneurysm 70 0.081
57
PSD007 Pseudomyxoma Peritonei 68 0.081
58
PNM008 Pneumothorax 49 0.081
59
DPH006 Diaphragmatic Eventration 33 0.081
60
PRT036 Peritonitis 71 0.077
61
P ABD003 Abdominal Aortic Aneurysm 67 0.077
62
GST023 Gastric Ulcer 66 0.077
63
c THY032 Thyroiditis 65 0.077
64
P EHL049 Ehlers-Danlos Syndrome Classical Type 55 0.077
65
c CHR345 Chronic Pain 47 0.077
66
BLD045 Bladder Diverticulum 28 0.077
67
c TRT010 Teratoma 58 0.073
68
CRN005 Craniofrontonasal Syndrome 57 0.073
69
ART001 Arterial Tortuosity Syndrome 55 0.073
70
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 44 0.073
71
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36 0.073
72
GST007 Gastric Dilatation 28 0.073
73
MRF001 Marfan Syndrome 85 0.069
74
P DDN001 Duodenal Ulcer 61 0.069
75
WLF002 Wolf-Hirschhorn Syndrome 61 0.069
76
P LPS002 Liposarcoma 60 0.069
77
P ADN016 Adenocarcinoma 58 0.069
78
P INF032 Infertility 54 0.069
79
P PLM064 Pulmonary Sequestration 29 0.069
80
15Q002 15q24 Microdeletion Syndrome 28 0.069
81
WND002 Wandering Spleen 28 0.069
82
CHR103 Charge Syndrome 65 0.064
83
LPM004 Lipoma 65 0.064
84
VGN023 Vaginitis 62 0.064
85
MLN007 Male Infertility 53 0.064
86
GLD002 Goldberg-Shprintzen Megacolon Syndrome 49 0.064
87
P CRN139 Cornelia De Lange Syndrome 1 48 0.064
88
TRC040 Tracheoesophageal Fistula 48 0.064
89
CHL004 Cholelithiasis 47 0.064
90
P HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 45 0.064
91
INT071 Intestinal Perforation 42 0.064
92
EHL050 Ehlers-Danlos Syndrome Dermatosparaxis Type 33 0.064
93
TBR010 Tuberculosis 85 0.060
94
MNK001 Menkes Disease 74 0.060
95
P BCK002 Beckwith-Wiedemann Syndrome 68 0.060
96
c PNC044 Pancreatitis 68 0.060
97
MRB003 Morbid Obesity 67 0.060
98
P DGR001 Digeorge Syndrome 67 0.060
99
GSG001 Gas Gangrene 67 0.060
100
c EHL001 Ehlers-Danlos Syndrome 63 0.060
101
DFC004 Deficiency Anemia 62 0.060
102
ACR008 Acrocallosal Syndrome 61 0.060
103
c MCP009 Mucopolysaccharidosis Ii 58 0.060
104
P WVR001 Weaver Syndrome 57 0.060
105
GRG001 Greig Cephalopolysyndactyly Syndrome 56 0.060
106
MTT005 Matthew-Wood Syndrome 54 0.060
107
MCR013 Microphthalmia 53 0.060
108
STS002 Situs Inversus 52 0.060
109
END072 Endotheliitis 50 0.060
110
PSD009 Pseudohermaphroditism 50 0.060
111
PYL006 Pyloric Stenosis 49 0.060
112
P ACH008 Achondrogenesis Type Ia 49 0.060
113
NSP002 Nasopharyngitis 48 0.060
114
FSC004 Fasciitis 45 0.060
115
MLT054 Multiple Pterygium Syndrome Escobar Type 40 0.060
116
P SCH035 Schwartz Jampel Syndrome Type 1 39 0.060
117
CRB009 Cerebritis 38 0.060
118
c ACH009 Achondrogenesis Type Ib 36 0.060
119
DDN009 Duodenal Obstruction 26 0.060
120
LVR012 Liver Cirrhosis 76 0.054
121
P ANG001 Angelman Syndrome 71 0.054
122
OCL005 Oculocerebrorenal Syndrome 70 0.054
123
P CLN016 Colon Cancer 64 0.054
124
OCC006 Occipital Horn Syndrome 63 0.054
125
WLL003 Williams Syndrome 63 0.054
126
SLY001 Sly Syndrome 62 0.054
127
c DST002 Distal Arthrogryposis 62 0.054
128
WGR001 Wagr Syndrome 60 0.054
129
CHL067 Cholecystitis 60 0.054
130
IRN001 Iron Deficiency Anemia 56 0.054
131
P CMP008 Compartment Syndrome 55 0.054
132
PLY012 Polyhydramnios 54 0.054
133
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.054
134
ACH005 Achalasia 53 0.054
135
BLN003 Blindness 52 0.054
136
IMP002 Imperforate Anus 51 0.054
137
DYS073 Dysphagia 51 0.054
138
HJD001 Hajdu-Cheney Syndrome 51 0.054
139
OBS001 Obstructive Jaundice 50 0.054
140
EHL048 Ehlers-Danlos Syndrome Arthrochalasia Type 50 0.054
141
P HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 50 0.054
142
P PRT096 Peritoneal Mesothelioma 49 0.054
143
DVR002 Diverticulitis 48 0.054
144
ABD004 Abdominal Tuberculosis 46 0.054
145
CMP034 Complete Androgen Insensitivity Syndrome 45 0.054
146
P SLD005 Sialidosis Type I 44 0.054
147
SYN036 Syncope 44 0.054
148
NCR007 Necrotizing Fasciitis 43 0.054
149
P RBN011 Robinow Syndrome, Autosomal Dominant 42 0.054
150
c SPN121 Spondylocostal Dysostosis 1 41 0.054
151
PNT005 Pentalogy of Cantrell 37 0.054
152
c MCP012 Mucopolysaccharidosis Ih 36 0.054
153
c CTS019 Cutis Laxa, Ad 35 0.054
154
LTR009 Lateral Meningocele Syndrome 34 0.054
155
c RBN009 Robinow Syndrome, Autosomal Recessive 33 0.054
156
c TTR017 Tetrasomy 12p 33 0.054
157
INT052 Intestinal Volvulus 33 0.054
158
SCR025 Scarf Syndrome 23 0.054
159
RTR012 Retroperitoneal Liposarcoma 23 0.054
160
MLL004 Mallory-Weiss Syndrome 22 0.054
161
XLN086 X-Linked Ehlers-Danlos Syndrome 18 0.054
162
NSP010 Nasopharyngeal Teratoma 18 0.054
163
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 15 0.054
164
CYS001 Cystic Fibrosis 96 0.049
165
TTR001 Tetralogy of Fallot 74 0.049
166
c MCP005 Mucopolysaccharidosis Vi 70 0.049
167
DNY001 Denys-Drash Syndrome 70 0.049
168
RNL002 Renal Agenesis 69 0.049
169
P RSP003 Respiratory Failure 68 0.049
170
PTR006 Peters Plus Syndrome 68 0.049
171
P SHR002 Short Stature 68 0.049
172
LMY002 Leiomyoma 67 0.049
173
P MCL015 Mucolipidosis Ii 67 0.049
174
c NPH012 Nephrotic Syndrome 67 0.049
175
SPN038 Spina Bifida 66 0.049
176
c MCP004 Mucopolysaccharidosis Iv 66 0.049
177
P PRT013 Portal Hypertension 65 0.049
178
ARS001 Aarskog-Scott Syndrome 65 0.049
179
ART019 Aortic Valve Stenosis 63 0.049
180
VCT001 Vacterl Association 62 0.049
181
c OST110 Osteogenesis Imperfecta, Type Xv 62 0.049
182
EDW001 Edwards Syndrome 60 0.049
183
INT051 Intussusception 60 0.049
184
P CFF001 Coffin-Siris Syndrome 59 0.049
185
CRD002 Cri-Du-Chat Syndrome 58 0.049
186
ANN002 Anencephaly 58 0.049
187
PRC012 Pericardial Effusion 57 0.049
188
c MLG002 Malignant Peritoneal Mesothelioma 57 0.049
189
c CTS001 Cutis Laxa 57 0.049
190
c MCR010 Microcephaly 56 0.049
191
c MNT147 Mental Retardation 56 0.049
192
URT001 Urethritis 54 0.049
193
MCN001 Mucinous Adenocarcinoma 54 0.049
194
WLL001 Williams-Beuren Syndrome 54 0.049
195
THR013 Thoracic Outlet Syndrome 52 0.049
196
c HYD002 Hydronephrosis 52 0.049
197
c SPN183 Spontaneous Pneumothorax 52 0.049
198
ASP002 Aspartylglucosaminuria 51 0.049
199
HYP009 Hypertrophic Pyloric Stenosis 49 0.049
200
P EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 49 0.049
201
HRM002 Hermaphroditism 48 0.049
202
CHY006 Chylous Ascites 48 0.049
203
ACT055 Actinomycosis 46 0.049
204
MDS022 Mediastinitis 45 0.049
205
AGN013 Agenesis of the Corpus Callosum 44 0.049
206
P CHR269 Chromosome 9p Deletion 41 0.049
207
EMN001 Emanuel Syndrome 41 0.049
208
c TYP002 Type Vi Ehlers-Danlos Syndrome 39 0.049
209
MGS001 Megaesophagus 39 0.049
210
P CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 38 0.049
211
P 2Q3002 2q37 Microdeletion Syndrome 36 0.049
212
P OPT051 Opitz Gbbb Syndrome, Type I 35 0.049
213
SYN053 Syndromic Diarrhea 34 0.049
214
TRL003 Toriello Carey Syndrome 31 0.049
215
MCH011 Meacham Syndrome 30 0.049
216
c CHR266 Chromosome 8p23.1 Deletion 25 0.049
217
TLH001 Tel Hashomer Camptodactyly Syndrome 24 0.049
218
URC005 Urachal Cyst 23 0.049
219
LWR007 Lowry Maclean Syndrome 23 0.049
220
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 19 0.049
221
SPL038 Splenogonadal Fusion - Limb Defects - Micrognathia 17 0.049
222
CPR003 Cooper-Jabs Syndrome 16 0.049
223
GSB001 Gas Bloat Syndrome 9 0.049
224
SMT004 Smith-Lemli-Opitz Syndrome 84 0.042
225
P GST019 Gastrointestinal Stromal Tumor 83 0.042
226
P MCP002 Mucopolysaccharidosis I 78 0.042
227
ANK002 Ankylosing Spondylitis 76 0.042
228
c DBT009 Diabetes Mellitus 73 0.042
229
c AXN002 Axenfeld-Rieger Syndrome 69 0.042
230
NRL016 Neural Tube Defects 69 0.042
231
P CNG401 Congenital Heart Disease 69 0.042
232
P PLM036 Pulmonary Fibrosis 68 0.042
233
PHR003 Pharyngitis 65 0.042
234
DNH001 Donohue Syndrome 64 0.042
235
P LRY019 Laryngitis 64 0.042
236
CLT003 Colitis 64 0.042
237
BRR003 Barrett's Esophagus 63 0.042
238
c KDN018 Kidney Disease 62 0.042
239
P PTT014 Pitt-Hopkins Syndrome 59 0.042
240
MYC002 Mycobacterium Avium Complex Disease 58 0.042
241
ANR004 Anuria 58 0.042
242
SMT015 Smith Magenis Syndrome 58 0.042
243
OST044 Osteoglophonic Dysplasia 57 0.042
244
P PNC045 Pancreatic Agenesis 57 0.042
245
P HLP012 Holoprosencephaly-3 56 0.042
246
PST041 Posterior Urethral Valves 55 0.042
247
c ACR001 Aicardi-Goutieres Syndrome 54 0.042
248
c SMP003 Simpson-Golabi-Behmel Syndrome 53 0.042
249
PTS001 Patau Syndrome 53 0.042
250
ULN003 Ulnar-Mammary Syndrome 53 0.042
251
VRC001 Varicocele 50 0.042
252
P CNT056 Cantu Syndrome 49 0.042
253
TRN044 Transposition of the Great Arteries 49 0.042
254
SCH016 Schimke Immunoosseous Dysplasia 48 0.042
255
LYM021 Lymphadenitis 47 0.042
256
P MLT055 Multiple Pterygium Syndrome Lethal Type 47 0.042
257
RVL002 Ruvalcaba Syndrome 46 0.042
258
DYS018 Dysostosis 45 0.042
259
P AZS001 Azoospermia 45 0.042
260
MTB004 Metabolic Acidosis 45 0.042
261
c MCP014 Mucopolysaccharidosis Type Iiid 45 0.042
262
EXS007 Exstrophy of the Bladder 44 0.042
263
P GM1001 Gm1 Gangliosidosis Type 1 44 0.042
264
ILS001 Ileus 44 0.042
265
TTR016 Tetra-Amelia Syndrome 43 0.042
266
MGC004 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 43 0.042
267
LMB052 Lumbar Disc Herniation 42 0.042
268
GPS001 Gapo Syndrome 42 0.042
269
UTR039 Uterine Fibroid 42 0.042
270
DDN004 Duodenogastric Reflux 41 0.042
271
P MNN007 Meningocele 40 0.042
272
P KLF001 Kleefstra Syndrome 40 0.042
273
SPL006 Splenic Infarction 38 0.042
274
VSC044 Visceral Myopathy 37 0.042
275
ABL001 Ablepharon Macrostomia Syndrome 35 0.042
276
ADS002 Adie Syndrome 35 0.042
277
P PRS068 Persistent Mullerian Duct Syndrome, Type Ii 34 0.042
278
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 33 0.042
279
48X003 48,xxyy Syndrome 33 0.042
280
FMR006 Femoral Facial Syndrome 33 0.042
281
c MNN025 Mannosidosis, Alpha-, Types I and Ii 32 0.042
282
SCM001 Scimitar Syndrome 32 0.042
283
c MCP036 Mucopolysaccharidosis Ih/s 32 0.042
284
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 31 0.042
285
NNT039 Neonatal Marfan Syndrome 31 0.042
286
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 31 0.042
287
P OMD001 Omodysplasia 1 31 0.042
288
LNZ002 Lenz Majewski Hyperostotic Dwarfism 31 0.042
289
CLK001 C-Like Syndrome 30 0.042
290
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 30 0.042
291
TRS012 Trisomy 22 30 0.042
292
INN003 Iniencephaly 30 0.042
293
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 29 0.042
294
HNM002 Hinman Syndrome 28 0.042
295
P DST041 Distal Monosomy 3p 27 0.042
296
PNC092 Pancreatic Agenesis and Congenital Heart Defects 26 0.042
297
GRL002 Gorlin Chaudhry Moss Syndrome 26 0.042
298
BDS002 Bod Syndrome 25 0.042
299
MLT104 Multiple Benign Circumferential Skin Creases on Limbs 25 0.042
300
DYS052 Dyssegmental Dysplasia Silverman-Handmaker Type 25 0.042
301
PNM003 Pneumatosis Cystoides Intestinalis 25 0.042
302
AXL004 Axial Mesodermal Dysplasia Spectrum 24 0.042
303
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 24 0.042
304
DFN279 Deafness - Intellectual Disability, Martin-Probst Type 24 0.042
305
ACR069 Acro-Renal-Mandibular Syndrome 23 0.042
306
P HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 22 0.042
307
P CHR229 Chromosome 20p Duplication 22 0.042
308
c KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 21 0.042
309
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 21 0.042
310
AND005 Androgen Insensitivity Syndrome, Mild 21 0.042
311
P HTR007 Heterotopia, Periventricular, Ed Variant 20 0.042
312
SYM004 Say Meyer Syndrome 19 0.042
313
FLT008 Flat Face - Microstomia - Ear Anomaly 19 0.042
314
CHL076 Chilaiditi Syndrome 19 0.042
315
CLL022 Collins Pope Syndrome 17 0.042
316
48X002 48,xxxy Syndrome 17 0.042
317
CRN224 Craniofaciofrontodigital Syndrome 17 0.042
318
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 17 0.042
319
HRS009 Hirschsprung Nail Hypoplasia Dysmorphism 16 0.042
320
FRS008 Froster-Huch Syndrome 16 0.042
321
MLL017 MĂĽllerian Derivatives - Lymphangiectasia - Polydactyly 16 0.042
322
PRX069 Proximal 16p11.2 Microdeletion Syndrome 16 0.042
323
ESP029 Esophageal Atresia/tracheoesophageal Fistula 16 0.042
324
PLM013 Pulmonary Immaturity 15 0.042
325
SND005 Sandifer Syndrome 15 0.042
326
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 15 0.042
327
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 14 0.042
328
DST071 Distal Monosomy 19p13.3 14 0.042
329
CTS024 Cutis Laxa-Marfanoid Syndrome 12 0.042
330
XLN145 X-Linked Intellectual Disability, Pai Type 12 0.042
331
P LVR011 Liver Cancer 90 0.034
332
P ATX002 Ataxia Telangiectasia 87 0.034
333
INC002 Inclusion Body Myositis 86 0.034
334
P PRM021 Primary Pulmonary Hypertension 80 0.034
335
P PNM007 Pneumonia 77 0.034
336
THY028 Thyroid Cancer 74 0.034
337
c PRM002 Primary Hyperoxaluria 73 0.034
338
c OST005 Osteogenesis Imperfecta 72 0.034
339
P PLL001 Pallister-Hall Syndrome 72 0.034
340
P MYS005 Myositis 71 0.034
341
LKC001 Leukocyte Adhesion Deficiency 69 0.034
342
P END044 Endometriosis 69 0.034
343
P HYD006 Hydrocephalus 69 0.034
344
P MLG075 Malignant Mesothelioma 68 0.034
345
ALV006 Alveolar Capillary Dysplasia 67 0.034
346
MCK007 Muckle-Wells Syndrome 67 0.034
347
ACR015 Acrocephalosyndactylia 66 0.034
348
P VLC001 Velocardiofacial Syndrome 66 0.034
349
P GST044 Gastritis 65 0.034
350
BLR001 Biliary Atresia 65 0.034
351
ULC004 Ulcerative Colitis 64 0.034
352
ACN002 Acanthosis Nigricans 64 0.034
353
HMH002 Hemihypertrophy 64 0.034
354
TTN003 Tetanus 64 0.034
355
CRB037 Cerebral Palsy 64 0.034
356
ISC004 Ischemia 62 0.034
357
P FRS003 Fraser Syndrome 62 0.034
358
c PLY014 Polycystic Kidney Disease 61 0.034
359
P LMY004 Leiomyosarcoma 61 0.034
360
P MYP004 Myopathy 61 0.034
361
P MYT006 Myotonic Dystrophy Type 1 61 0.034
362
P CNJ013 Conjunctivitis 61 0.034
363
DWN001 Down Syndrome 61 0.034
364
JCB001 Jacobsen Syndrome 60 0.034
365
P FTL006 Fetal Alcohol Spectrum Disorder 60 0.034
366
OLG003 Oligohydramnios 59 0.034
367
SPN020 Spondylosis 59 0.034
368
DBL002 Double Outlet Right Ventricle 59 0.034
369
AMN001 Amenorrhea 58 0.034
370
P PRM100 Primary Spontaneous Pneumothorax 58 0.034
371
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 57 0.034
372
P SPN016 Spondylocostal Dysostosis 57 0.034
373
PTN002 Patent Ductus Arteriosus 57 0.034
374
HYP266 Hypoxia 57 0.034
375
INC001 Incontinentia Pigmenti Achromians 56 0.034
376
P OCL013 Oculodentodigital Dysplasia 56 0.034
377
MCR103 Microtia 56 0.034
378
RTN017 Retinal Detachment 56 0.034
379
P FNC025 Fanconi Anemia, Complementation Group J 55 0.034
380
ART017 Aortic Disease 55 0.034
381
P KLP003 Klippel-Feil Syndrome 55 0.034
382
PRT019 Protein-Losing Enteropathy 55 0.034
383
CTY001 Cat Eye Syndrome 55 0.034
384
RDC002 Radiculopathy 55 0.034
385
FLT006 Floating-Harbor Syndrome 55 0.034
386
GST050 Gastrointestinal System Disease 55 0.034
387
P HYP040 Hypospadias 54 0.034
388
CYS014 Cystadenocarcinoma 54 0.034
389
CCH002 Coach Syndrome 54 0.034
390
P ALP014 Alpha-Thalassemia/mental Retardation Syndrome 54 0.034
391
CNS004 Constipation 53 0.034
392
RTN023 Retinitis 53 0.034
393
AND003 Andersen-Tawil Syndrome 53 0.034
394
BLD044 Bladder Disease 53 0.034
395
GST045 Gastroenteritis 53 0.034
396
c CRN015 Cornelia De Lange Syndrome 52 0.034
397
ISC015 Ischemic Colitis 52 0.034
398
P CLF002 Cleft Palate 51 0.034
399
ESN005 Eosinophilic Gastroenteritis 51 0.034
400
P DST010 Distal Arthrogryposis Type 5 51 0.034
401
PYD002 Pyoderma 51 0.034
402
KNS001 Kniest Dysplasia 51 0.034
403
THR009 Thrombocytopenia-Absent Radius Syndrome 50 0.034
404
ORC001 Orchitis 50 0.034
405
P NML001 Nemaline Myopathy 50 0.034
406
c NNT009 Neonatal Diabetes Mellitus 50 0.034
407
MCP016 Mecp2 Duplication Syndrome 49 0.034
408
SMN007 Seminoma 49 0.034
409
ALB002 Albinism 48 0.034
410
ADR027 Adrenocortical Insufficiency 48 0.034
411
ARS002 Arsacs 47 0.034
412
DDN011 Duodenal Atresia 47 0.034
413
P OVR046 Ovarian Cyst 47 0.034
414
P ATX010 Ataxia Neuropathy Spectrum 47 0.034
415
FBR019 Fibromatosis 46 0.034
416
SCR024 Sacrococcygeal Teratoma 46 0.034
417
P EPS020 Episodic Ataxia Type 1 46 0.034
418
HMN016 Hemangioendothelioma 45 0.034
419
FTL007 Fetal Hydantoin Syndrome 45 0.034
420
HRS011 Horseshoe Kidney 44 0.034
421
PLR007 Pleural Empyema 44 0.034
422
SCH024 Schinzel Giedion Syndrome 44 0.034
423
BRS090 Breast Reconstruction 44 0.034
424
PRR010 Pierre Robin Sequence 43 0.034
425
PLR005 Pleuropneumonia 43 0.034
426
c MCL046 Mucolipidosis Iii Alpha/beta 42 0.034
427
PHL006 Phelan-Mcdermid Syndrome 42 0.034
428
P EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 41 0.034
429
PLN006 Poland Syndrome 41 0.034
430
SRF006 Surfactant Dysfunction 41 0.034
431
P ORF011 Orofaciodigital Syndrome 6 41 0.034
432
c RPS001 Rapsn-Related Congenital Myasthenic Syndrome 41 0.034
433
CRN088 Craniorachischisis 40 0.034
434
MYH012 Myhre Syndrome 40 0.034
435
18Q002 18q Deletion Syndrome 40 0.034
436
SWY002 Swyer Syndrome 39 0.034
437
EXN003 Exencephaly 39 0.034
438
SPR035 Superior Vena Cava Syndrome 39 0.034
439
NCL003 Nicolaides Baraitser Syndrome 39 0.034
440
TTR004 Tetrology of Fallot 39 0.034
441
FGS001 Fg Syndrome 38 0.034
442
MYC015 Mycobacterium Fortuitum 37 0.034
443
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 37 0.034
444
DST056 Distal 22q11.2 Microdeletion Syndrome 37 0.034
445
HYP007 Hypermobility Syndrome 37 0.034
446
P KBK002 Kabuki Syndrome 1 37 0.034
447
WRN004 Wrinkly Skin Syndrome 36 0.034
448
IMM088 Immunodeficiency 36 36 0.034
449
GRD006 Geroderma Osteodysplastica 36 0.034
450
PRL008 Paralytic Ileus 36 0.034
451
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 34 0.034
452
IVM001 Ivemark Syndrome 34 0.034
453
SKT001 Sakati Syndrome 34 0.034
454
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 33 0.034
455
OCL034 Oculocerebrocutaneous Syndrome 33 0.034
456
CTL001 Catel Manzke Syndrome 32 0.034
457
CRN185 Craniofacial Deafness Hand Syndrome 32 0.034
458
PRD015 Proud Levine Carpenter Syndrome 31 0.034
459
LYS011 Loeys-Dietz Syndrome Type 3 30 0.034
460
APL022 Aplasia Cutis Congenita, Reticulolinear, with Mmicrocephaly, Facial Dysmorphism and Other Congenital Anomalies 30 0.034
461
17Q004 17q12 Microdeletion Syndrome 30 0.034
462
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 30 0.034
463
OCL033 Oculocerebral Syndrome with Hypopigmentation 30 0.034
464
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 29 0.034
465
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 29 0.034
466
EPD046 Epididymitis 28 0.034
467
TFT003 Tufting Enteropathy 28 0.034
468
P CNG151 Congenital Hypothyroidism, Nongoitrous 1 28 0.034
469
MSM004 Mesomelia-Synostoses Syndrome 28 0.034
470
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 28 0.034
471
IRN002 Iron Metabolism Disease 27 0.034
472
c EFM001 Efemp2-Related Cutis Laxa 27 0.034
473
EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 27 0.034
474
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 26 0.034
475
c PRS067 Persistent Mullerian Duct Syndrome, Type I 25 0.034
476
ACR029 Acrofacial Dysostosis Catania Type 25 0.034
477
c AXN004 Axenfeld-Rieger Syndrome Type 2 25 0.034
478
SCH055 Schilbach-Rott Syndrome 24 0.034
479
2P1002 2p15p16.1 Microdeletion Syndrome 24 0.034
480
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 24 0.034
481
PLY031 Polydactyly Myopia Syndrome 24 0.034
482
17P002 17p13.3 Microduplication Syndrome 23 0.034
483
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 23 0.034
484
LYS014 Loeys-Dietz Syndrome, Type 2 23 0.034
485
SPL022 Split Hand Urinary Anomalies Spina Bifida 23 0.034
486
BRC019 Brachycephalofrontonasal Dysplasia 23 0.034
487
INT011 Interstitial Emphysema 23 0.034
488
c 2Q3005 2q31.1 Microdeletion Syndrome 23 0.034
489
CRN083 Craniofacial Dyssynostosis 23 0.034
490
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 23 0.034
491
c CHR224 Chromosome 1q Duplication 22 0.034
492
c BNG076 Benign Exophthalmos Syndrome 22 0.034
493
JNT001 Joint Laxity, Familial 22 0.034
494
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 22 0.034
495
LMB013 Limb Reduction Defect 22 0.034
496
c TTR012 Tetrasomy 9p 21 0.034
497
GNT017 Genito Palato Cardiac Syndrome 21 0.034
498
PSD027 Pseudoaminopterin Syndrome 21 0.034
499
CRN190 Craniosynostosis - Fibular Aplasia 21 0.034
500
TBB001 Tibia Absent Polydactyly Arachnoid Cyst 21 0.034
501
WLS004 Wilson-Turner Syndrome 21 0.034
502
P MNT109 Mental Retardation, X-Linked, Syndromic 15 21 0.034
503
HLP015 Holoprosencephaly - Postaxial Polydactyly 21 0.034
504
MLT123 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 21 0.034
505
ARM005 Armfield Syndrome 21 0.034
506
ACH018 Achondroplasia and Severe Combined Immunodeficiency 21 0.034
507
SCH025 Schisis Association 20 0.034
508
MNV001 Manouvrier Syndrome 20 0.034
509
INT240 Intellectual Disability, Wolff Type 20 0.034
510
BLP009 Blepharonasofacial Malformation Syndrome 20 0.034
511
ART046 Arthrogryposis Multiplex Congenita Neurogenic Type 19 0.034
512
BRD023 Bird Headed Dwarfism Montreal Type 19 0.034
513
BND007 Bone Dysplasia Lethal Holmgren Type 19 0.034
514
MCN018 Mucinous Adenocarcinoma of the Appendix 19 0.034
515
c MNS011 Monosomy 9q22.3 19 0.034
516
DFF002 Diffuse Pulmonary Fibrosis 19 0.034
517
BRC027 Brachydactyly Mononen Type 18 0.034
518
P ENC032 Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria 18 0.034
519
ANR012 Aniridia Absent Patella 18 0.034
520
SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 18 0.034
521
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 18 0.034
522
c DST045 Distal Trisomy 6p 18 0.034
523
PRG024 Progeroid Syndrome Petty Type 18 0.034
524
SBR006 Subaortic Stenosis Short Stature Syndrome 17 0.034
525
AZY001 Azygos Continuation of the Inferior Vena Cava 17 0.034
526
PFF004 Pfeiffer Palm Teller Syndrome 17 0.034
527
c 6P2001 6p22 Microdeletion Syndrome 17 0.034
528
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 17 0.034
529
CRB056 Cerebellar Ataxia Ectodermal Dysplasia 17 0.034
530
CRN226 Craniosynostosis - Hydrocephalus - Arnold-Chiari Malformation Type I - Radioulnar Synostosis 17 0.034
531
c ANT010 Anterior Compartment Syndrome 17 0.034
532
CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 17 0.034
533
CNG062 Congenital Bronchobiliary Fistula 17 0.034
534
GRX001 Grix Blankenship Peterson Syndrome 16 0.034
535
RNL040 Renal Genital Middle Ear Anomalies 16 0.034
536
c CRP022 Carpenter Syndrome 2 16 0.034
537
SVR009 Seaver Cassidy Syndrome 16 0.034
538
DSH001 Daish Hardman Lamont Syndrome 16 0.034
539
c DST038 Distal Monosomy 7q36 16 0.034
540
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 16 0.034
541
THK001 Thakker-Donnai Syndrome 15 0.034
542
INT241 Intellectual Disability, Buenos-Aires Type 15 0.034
543
HYP478 Hyposmia - Nasal and Ocular Hypoplasia - Hypogonadotropic Hypogonadism 15 0.034
544
c DST037 Distal Monosomy 9p 15 0.034
545
CLF019 Cleft Palate Short Stature Vertebral Anomalies 15 0.034
546
ARC018 Arachnodactyly - Abnormal Ossification - Intellectual Disability 15 0.034
547
15Q003 15q14 Microdeletion Syndrome 15 0.034
548
CND009 Conductive Deafness with Malformed External Ear 15 0.034
549
INT245 Intellectual Disability - Polydactyly - Uncombable Hair 15 0.034
550
c ADM010 Adams-Oliver Syndrome 5 15 0.034
551
NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 15 0.034
552
CNG235 Congenital Microgastria 14 0.034
553
MYC060 Mycophenolate Mofetil Embryopathy 14 0.034
554
THY053 Thyroid Hormone Plasma Membrane Transport Defect 14 0.034
555
c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 14 0.034
556
RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 14 0.034
557
P BRT029 Brittle Cornea Syndrome 2 14 0.034
558
NND005 Non-Distal Trisomy 13q 13 0.034
559
INT236 Intellectual Disability - Unusual Facies 13 0.034
560
TRC038 Tracheobronchomegaly 13 0.034
561
INT235 Intellectual Disability-Unusual Facies, Davis-Lafer Type 13 0.034
562
MSC083 Muscular Pseudohypertrophy - Hypothyroidism 13 0.034
563
ARR032 Arrhinia - Choanal Atresia - Microphthalmia 12 0.034
564
BRC077 Brachydactyly - Mesomelia - Intellectual Disability - Heart Defects 12 0.034
565
INT234 Intellectual Disability - Hypotonia - Skin Hyperpigmentation 12 0.034
566
FTL024 Fetal Minoxidil Syndrome 12 0.034
567
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 12 0.034
568
PLM045 Palmer Pagon Syndrome 12 0.034
569
KRS001 Krauss Herman Holmes Syndrome 10 0.034
570
MRF010 Marfanoid Syndrome, De Silva Type 9 0.034
571
PRC041 Pericardial and Diaphragmatic Defect 8 0.034
572
CNG131 Congenital Unilateral Pulmonary Hypoplasia 8 0.034
573
P ALZ001 Alzheimer's Disease 98 0.024
574
P NRF002 Neurofibromatosis 94 0.024
575
P MYC007 Myocardial Infarction 92 0.024
576
FBR012 Fabry Disease 85 0.024
577
ESP021 Esophageal Cancer 80 0.024
578
P FRG001 Fragile X Syndrome 77 0.024
579
GLN003 Glanzmann's Thrombasthenia 76 0.024
580
CRH001 Crohn's Disease 75 0.024
581
P AMY004 Amyloidosis 73 0.024
582
CFF002 Coffin-Lowry Syndrome 73 0.024
583
P HYP458 Hyper Ige Syndrome 72 0.024
584
P FCL005 Focal Segmental Glomerulosclerosis 72 0.024
585
GLL008 Gilles De La Tourette Syndrome 72 0.024
586
ACQ007 Acquired Immunodeficiency Syndrome 70 0.024
587
P HMN010 Hemangioma 70 0.024
588
P NRB001 Neuroblastoma 70 0.024
589
c CNG006 Congenital Hypothyroidism 69 0.024
590
c CRN037 Craniosynostosis 69 0.024
591
c HPT016 Hepatitis B 68 0.024
592
P FCS002 Fucosidosis 68 0.024
593
IDP003 Idiopathic Pulmonary Fibrosis 68 0.024
594
ART021 Arteriosclerosis 67 0.024
595
P CNV004 Canavan Disease 67 0.024
596
P SYS005 Systemic Scleroderma 66 0.024
597
ABT001 Abetalipoproteinemia 66 0.024
598
c AMY001 Amyotrophic Lateral Sclerosis 66 0.024
599
BRN024 Bronchitis 66 0.024
600
CST001 Costello Syndrome 66 0.024
601
P WLM002 Wilms Tumor 66 0.024
602
STT001 Status Epilepticus 65 0.024
603
PLM033 Pulmonary Embolism 65 0.024
604
c XRD001 Xeroderma Pigmentosum 65 0.024
605
PNT028 Pantothenate Kinase-Associated Neurodegeneration 64 0.024
606
ANR002 Aniridia 64 0.024
607
MXD005 Mixed Connective Tissue Disease 64 0.024
608
BBS001 Babesiosis 64 0.024
609
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.024
610
c GLL020 Gallbladder Disease 63 0.024
611
P ADL010 Adult Respiratory Distress Syndrome 63 0.024
612
LDD001 Ladd Syndrome 62 0.024
613
CMP002 Campylobacteriosis 62 0.024
614
GLD001 Goldenhar Syndrome 62 0.024
615
ART031 Aortic Coarctation 62 0.024
616
LRN003 Learning Disability 62 0.024
617
SPN027 Spinal Stenosis 62 0.024
618
TYP007 Typhoid Fever 62 0.024
619
P XRD018 Xeroderma Pigmentosum, Group a 62 0.024
620
c HYP055 Hypoplastic Left Heart Syndrome 62 0.024
621
MLL005 Miller-Dieker Syndrome 62 0.024
622
PLY023 Polycystic Liver Disease 61 0.024
623
PTN001 Patent Foramen Ovale 61 0.024
624
XLN001 X-Linked Ichthyosis 61 0.024
625
P MLS001 Melas Syndrome 60 0.024
626
PRS047 Prostatitis 59 0.024
627
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.024
628
TWN003 Townes-Brocks Syndrome 59 0.024
629
P MTR005 Mitral Valve Prolapse 59 0.024
630
NRC020 Neuroectodermal Tumor 59 0.024
631
MYX005 Myxoid Liposarcoma 59 0.024
632
MCK005 Mckusick-Kaufman Syndrome 59 0.024
633
PLY041 Polymyositis 58 0.024
634
CHL068 Cholestasis 58 0.024
635
RHB003 Rhabdomyosarcoma 58 0.024
636
RLY001 Riley-Day Syndrome 58 0.024
637
P CNG095 Congenital Generalized Lipodystrophy Type 2 58 0.024
638
NRN001 Neuroendocrine Carcinoma 58 0.024
639
ANT009 Antithrombin Iii Deficiency 58 0.024
640
HYP063 Hypersplenism 58 0.024
641
OST017 Osteomyelitis 58 0.024
642
CNN005 Connective Tissue Disease 58 0.024
643
P DND001 Dandy-Walker Syndrome 57 0.024
644
c SCK002 Sick Sinus Syndrome 57 0.024
645
P CRV039 Cervicitis 57 0.024
646
EPD016 Epidermolysis Bullosa 57 0.024
647
P DBT005 Diabetes Insipidus 57 0.024
648
NRL005 Neurilemmoma 57 0.024
649
BRN029 Brain Disease 57 0.024
650
PRT039 Proteinuria 57 0.024
651
MYC012 Mycetoma 57 0.024
652
c HYP097 Hyperekplexia 57 0.024
653
DFF003 Diffuse Scleroderma 57 0.024
654
NRF007 Neurofibroma 57 0.024
655
HMS001 Hemosiderosis 57 0.024
656
LRY018 Laryngeal Squamous Cell Carcinoma 57 0.024
657
SNS001 Sensorineural Hearing Loss 57 0.024
658
c THR003 Thoracic Aortic Aneurysm 56 0.024
659
ANK001 Ankylosis 56 0.024
660
LMT001 Limited Scleroderma 56 0.024
661
c LSS002 Lissencephaly 56 0.024
662
BRN056 Bronchopulmonary Dysplasia 56 0.024
663
P PLY006 Polydactyly 56 0.024
664
PYD001 Pyoderma Gangrenosum 56 0.024
665
CYS002 Cystic Lymphangioma 56 0.024
666
P SYR001 Syringomyelia 55 0.024
667
SLT008 Solitary Fibrous Tumor 55 0.024
668
P STC005 Stickler Syndrome Type 1 55 0.024
669
KLN001 Klinefelter's Syndrome 55 0.024
670
c MCK006 Meckel Syndrome 55 0.024
671
c RBN002 Robinow Syndrome 55 0.024
672
P DWR001 Dwarfism 54 0.024
673
P PND001 Pain Disorder 54 0.024
674
PRM003 Premature Ejaculation 54 0.024
675
HPT023 Hepatocellular Carcinoma 54 0.024
676
MBS002 Moebius Syndrome 53 0.024
677
YLL001 Yellow Nail Syndrome 53 0.024
678
LYM022 Lymphangioma 53 0.024
679
c STS001 Sotos Syndrome 53 0.024
680
PPT005 Peptic Ulcer Disease 53 0.024
681
P ENC008 Encephalocele 53 0.024
682
NRG002 Neurogenic Bladder 52 0.024
683
PRC013 Pericarditis 52 0.024
684
HMP005 Hemiplegia 52 0.024
685
CLR003 Clear Cell Adenocarcinoma 52 0.024
686
CLN015 Colon Adenocarcinoma 52 0.024
687
MYC005 Myocardial Stunning 51 0.024
688
ACR012 Aicardi Syndrome 51 0.024
689
MLK003 Melkersson-Rosenthal Syndrome 51 0.024
690
SHR001 Short Bowel Syndrome 51 0.024
691
ADN014 Adenomatoid Tumor 51 0.024
692
DBW001 Dubowitz Syndrome 51 0.024
693
MCN008 Mucinous Cystadenocarcinoma 50 0.024
694
P CST002 Castleman's Disease 50 0.024
695
P SZR006 Seizure Disorder 50 0.024
696
CNT091 Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 50 0.024
697
P PLG001 Pelger-Huet Anomaly 50 0.024
698
c EPS003 Episodic Ataxia 50 0.024
699
CYS009 Cystadenoma 50 0.024
700
GST027 Gastric Lymphoma 50 0.024
701
1P3001 1p36 Deletion Syndrome 50 0.024
702
c SCK004 Seckel Syndrome 49 0.024
703
GRM009 Germ Cell Tumors 49 0.024
704
GNT031 Genitopatellar Syndrome 49 0.024
705
P NRV007 Nervous System Disease 49 0.024
706
HYP005 Hypokalemia 49 0.024
707
PRN038 Prune Belly Syndrome 49 0.024
708
P PLM030 Pleomorphic Rhabdomyosarcoma 49 0.024
709
NRT004 Neuritis 49 0.024
710
c INT060 Intestinal Atresia 48 0.024
711
c CNT035 Central Nervous System Disease 48 0.024
712
SLR001 Sialuria 48 0.024
713
KRT002 Keratomalacia 47 0.024
714
CNS002 Constrictive Pericarditis 47 0.024
715
JBS001 Job's Syndrome 47 0.024
716
c OST042 Osteogenesis Imperfecta Type 8 46 0.024
717
URT010 Ureteral Obstruction 46 0.024
718
ANG054 Angina Pectoris 46 0.024
719
FBR054 Fibroma 46 0.024
720
INT046 Intestinal Tuberculosis 46 0.024
721
46X026 46xy Sex Reversal 2, Dosage-Sensitive 46 0.024
722
RYN003 Reynolds Syndrome 45 0.024
723
CRN025 Corneal Dystrophy 45 0.024
724
EPL002 Epilepsy Syndrome 45 0.024
725
c LRG014 Large Cell Neuroendocrine Carcinoma 45 0.024
726
46X023 46xy Sex Reversal 7 45 0.024
727
MLG098 Malignant Mixed Mullerian Tumor 44 0.024
728
c TRC005 Tracheal Stenosis 44 0.024
729
LYM011 Lymphogranuloma Venereum 44 0.024
730
UNL007 Unilateral Renal Agenesis 44 0.024
731
P CRP007 Carpenter Syndrome 44 0.024
732
MXD032 Mixed Germ Cell Tumor 44 0.024
733
CHN015 Chondrodysplasia 43 0.024
734
NRN002 Neuronitis 43 0.024
735
DXT001 Dextrocardia 43 0.024
736
P CYS017 Cystic Teratoma 43 0.024
737
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 42 0.024
738
NGR001 Nager Acrofacial Dysostosis 42 0.024
739
PCH002 Pachygyria 42 0.024
740
NPH017 Nephrosis 42 0.024
741
PRV003 Perivascular Epithelioid Cell Tumor 42 0.024
742
RCT011 Rectal Prolapse 41 0.024
743
CHL079 Children's Interstitial Lung Disease 41 0.024
744
LRY029 Laryngomalacia 40 0.024
745
SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 40 0.024
746
HYP265 Hypotonia 40 0.024
747
CHR174 Christianson Syndrome 40 0.024
748
ACL001 Acalculous Cholecystitis 40 0.024
749
MTR010 Mature Teratoma 40 0.024
750
PHM001 Phimosis 39 0.024
751
TTH001 Tooth Ankylosis 39 0.024
752
HYP143 Hypomyelination and Congenital Cataract 39 0.024
753
c RNG010 Ring Chromosome 15 38 0.024
754
SCL017 Sclerosing Hemangioma 38 0.024
755
ESN020 Eosinophilic Granulomatosis with Polyangiitis 38 0.024
756
GST053 Gastric Cancer 38 0.024
757
P ANP022 Anophthalmia/microphthalmia 38 0.024
758
P SCH023 Schindler Disease, Type 1 38 0.024
759
RNL025 Renal Hypoplasia 37 0.024
760
PRT048 Partial Atrioventricular Canal 37 0.024
761
BLP004 Blepharophimosis 37 0.024
762
DXT002 Dextrocardia with Situs Inversus 37 0.024
763
CLF027 Cleft Palate, Isolated 37 0.024
764
SPS057 Spasticity 37 0.024
765
EXS013 Exstrophy-Epispadias Complex 37 0.024
766
c OPT048 Opitz-Gbbb Syndrome 37 0.024
767
IPX001 Ipex Syndrome 36 0.024
768
RTR007 Retroperitoneal Leiomyosarcoma 36 0.024
769
BLR002 Bile Reflux 36 0.024
770
c MRD002 Marden-Walker Syndrome 35 0.024
771
SKL017 Skeletal Dysplasias 35 0.024
772
MRS004 Marshall-Smith Syndrome 35 0.024
773
NML020 Nemaline Myopathy 5, Amish Type 35 0.024
774
HYP264 Hypertonia 35 0.024
775
TYL002 Tylosis with Esophageal Cancer 35 0.024
776
ZMM001 Zimmermann-Laband Syndrome 34 0.024
777
c FML087 Familial Renal Cell Carcinoma 34 0.024
778
HRD028 Hereditary Folate Malabsorption 34 0.024
779
SPR007 Superior Mesenteric Artery Syndrome 34 0.024
780
DPH019 Diaphanospondylodysostosis 34 0.024
781
c ATP003 Atp6v0a2-Related Cutis Laxa 34 0.024
782
FCT013 Factor V Leiden Thrombophilia 34 0.024
783
ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 33 0.024
784
P INF069 Infantile Neuroaxonal Dystrophy 1 33 0.024
785
BMR002 Beemer-Langer Syndrome 33 0.024
786
P BRC048 Bruck Syndrome 2 33 0.024
787
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 33 0.024
788
CNG122 Congenital Pulmonary Lymphangiectasia 33 0.024
789
PLM018 Pulmonary Sclerosing Hemangioma 33 0.024
790
NTR005 Nutritional Deficiency Disease 33 0.024
791
c MCP020 Mucopolysaccharidosis Type Iiic 32 0.024
792
c MCR084 Microphthalmia Syndromic 7 32 0.024
793
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 31 0.024
794
EPD018 Epididymo-Orchitis 31 0.024
795
SKL007 Skeletal Muscle Regeneration 31 0.024
796
P 49X002 49,xxxxy Syndrome 31 0.024
797
MNR004 Mounier-Kuhn Syndrome 31 0.024
798
PRM158 Primary Intestinal Lymphangiectasia 31 0.024
799
RGH009 Right Atrial Isomerism 30 0.024
800
CYT004 Cytomegalic Inclusion Disease 29 0.024
801
c PST061 Posterior Polymorphous Corneal Dystrophy 29 0.024
802
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 29 0.024
803
CRK001 Cork-Handlers' Disease 28 0.024
804
CLN022 Colonic Atresia 28 0.024
805
3Q2001 3q29 Deletion Syndrome 27 0.024
806
DYS011 Dyskinesia of Esophagus 27 0.024
807
17Q002 17q23.1q23.2 Microdeletion Syndrome 27 0.024
808
3MC002 3mc Syndrome 1 27 0.024
809
TRC035 Tracheal Agenesis 26 0.024
810
ALP070 Alport Syndrome - Intellectual Disability - Midface Hypoplasia - Elliptocytosis 26 0.024
811
3MC001 3mc Syndrome 2 26 0.024
812
c CNG094 Congenital Generalized Lipodystrophy Type 1 26 0.024
813
DFF022 Diffuse Neonatal Hemangiomatosis 26 0.024
814
PLM049 Plummer Vinson Syndrome 26 0.024
815
MCR039 Macrophagic Myofasciitis 26 0.024
816
HYP179 Hypertrichosis Congenital Generalized X-Linked 26 0.024
817
LNG054 Lung Agenesis 26 0.024
818
CHR281 Chronic Hiccups 25 0.024
819
XLN094 X-Linked Reticulate Pigmentary Disorder with Systemic Manifestations 25 0.024
820
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 25 0.024
821
IDP021 Idiopathic Myopathy 25 0.024
822
OVR047 Ovarian Cystadenocarcinoma 25 0.024
823
MYS010 Myostatin-Related Muscle Hypertrophy 25 0.024
824
MCR073 Microgastria Limb Reduction Defect 25 0.024
825
ASC004 Ascending Colon Cancer 25 0.024
826
URT016 Urethral Diverticulum 25 0.024
827
c SPS112 Spastic Paraplegia 9, Autosomal Dominant 25 0.024
828
PL2001 Pla2g6-Associated Neurodegeneration 24 0.024
829
OGD001 Ogden Syndrome 24 0.024
830
EHL014 Ehlers-Danlos Syndrome Kyphoscoliotic Type 24 0.024
831
ARG004 Argyria 24 0.024
832
c DNT021 Dent Disease 2 24 0.024
833
CYS015 Cystadenofibroma 24 0.024
834
c SPS094 Spastic Paraplegia 29, Autosomal Dominant 23 0.024
835
HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 23 0.024
836
EHL044 Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency 23 0.024
837
PLL005 Pallister-Killian Mosaic Syndrome 23 0.024
838
TRN003 Transverse Colon Cancer 23 0.024
839
SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 22 0.024
840
TCK002 Tick Paralysis 22 0.024
841
c HRD009 Hereditary Wilms' Tumor 22 0.024
842
ART007 Aorta Atresia 22 0.024
843
17P001 17p11.2 Microduplication Syndrome 22 0.024
844
P 7Q1002 7q11.23 Duplication Syndrome 22 0.024
845
c OST108 Osteogenesis Imperfecta Type Xiii 22 0.024
846
PRG098 Progéria - Short Stature - Pigmented Nevi 21 0.024
847
c CHR226 Chromosome 1q41-Q42 Deletion Syndrome 21 0.024
848
MRG001 Morgagni Cataract 21 0.024
849
GLS018 Glass Syndrome 21 0.024
850
P PLM069 Pulmonary Venous Return Anomaly 21 0.024
851
c CHR225 Chromosome 1q21.1 Duplication Syndrome 21 0.024
852
SHP004 Shprintzen Omphalocele Syndrome 20 0.024
853
MSN003 Mesenteric Vascular Occlusion 20 0.024
854
HCS001 Hec Syndrome 20 0.024
855
ANR019 Anorectal Atresia 20 0.024
856
VSC026 Vesiculitis 20 0.024
857
STR029 Sternal Cleft 20 0.024
858
SPN245 Spondylocostal Dysostosis - Anal and Genitourinary Malformations 20 0.024
859
GNT020 Giant Congenital Nevus 20 0.024
860
c 46X001 46 Xy Gonadal Dysgenesis 20 0.024
861
c 3MT005 3 Methylglutaconic Aciduria Type Iv 20 0.024
862
ISL075 Isolated Pierre Robin Sequence 20 0.024
863
MLP004 Malpuech Facial Clefting Syndrome 19 0.024
864
c OST065 Osteogenesis Imperfecta Type X 19 0.024
865
EHL029 Ehlers-Danlos Syndrome, Cardiac Valvular Form 19 0.024
866
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 19 0.024
867
FCC002 Faciocardiorenal Syndrome 19 0.024
868
16P006 16p11.2p12.2 Microdeletion Syndrome 19 0.024
869
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 18 0.024
870
c CRN109 Cranioectodermal Dysplasia 2 18 0.024
871
GRW012 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 18 0.024
872
RMS006 Ramos-Arroyo Syndrome 18 0.024
873
ESN014 Eosinophilic Enteropathy 17 0.024
874
c ADM009 Adams-Oliver Syndrome 4 17 0.024
875
14Q001 14q12 Microdeletion Syndrome 17 0.024
876
TTT001 Tatton-Brown-Rahman Syndrome 17 0.024
877
PRV001 Parovarian Cyst 17 0.024
878
ATS073 Autosomal Recessive Facio-Digito-Genital Syndrome 16 0.024
879
ESP040 Esophageal Duplication Cyst 16 0.024
880
CNG092 Congenital Extrahepatic Portosystemic Shunt 16 0.024
881
c SVR048 Severe Canavan Disease 16 0.024
882
HMM004 Hamamy Syndrome 16 0.024
883
c EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 16 0.024
884
PLY032 Polydactyly Postaxial Dental and Vertebral 16 0.024
885
RCT033 Rectal Duplication 15 0.024
886
BNG042 Benign Multicystic Peritoneal Mesothelioma 15 0.024
887
1P3002 1p31p32 Microdeletion Syndrome 15 0.024
888
SYR004 Syringobulbia 14 0.024
889
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.024
890
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 14 0.024
891
SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 14 0.024
892
c MCR212 Microphthalmia, Syndromic 12 14 0.024
893
ACR070 Acro-Pectoro-Renal Dysplasia 14 0.024
894
CMB030 Combined Immunodeficiency with Facio-Oculo-Skeletal Anomalies 14 0.024
895
ADN026 Adenocarcinoid Tumor 14 0.024
896
LYS013 Loeys-Dietz Syndrome, Type 4 13 0.024
897
c THY071 Thyroid Dyshormonogenesis 1 13 0.024
898
16P003 16p13.11 Microdeletion Syndrome 13 0.024
899
c 8Q1001 8q12 Microduplication Syndrome 13 0.024
900
MCK004 Meckel's Diverticulitis 13 0.024
901
c CHR203 Chromosome 16p Duplication 12 0.024
902
FBL005 Fibular Aplasia 12 0.024
903
RDG003 Rudiger Syndrome 12 0.024
904
INF053 Infantile Spasms Broad Thumbs 12 0.024
905
MLL008 Mullerian Agenesis 10 0.024
906
c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 10 0.024
907
EHL011 Ehlers-Danlos Syndrome Beasley Cohen Type 9 0.024
908
LPM001 Lipoma of Spermatic Cord 8 0.024
909
TTR007 Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 6 0.024